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Keywords: Ciliopathy
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Journal Articles
In collection:
Cilia and Flagella
J Cell Sci (2021) 134 (14): jcs258568.
Published: 22 July 2021
...-associated syndromes. Over 130 CEP290 mutations have been linked to a wide spectrum of human ciliopathies, raising the question of how mutations in a single gene cause different disease syndromes. In zebrafish, the expressivity of cep290 deficiencies were linked to the type of genetic ablation: acute cep290...
Includes: Supplementary data
Journal Articles
J Cell Sci (2016) 129 (9): 1769–1774.
Published: 1 May 2016
... carried by the mother centriole that is required for primary cilium formation. Recent data have implicated CEP164 as a ciliopathy gene and suggest that CEP164 plays some roles in the DNA damage response (DDR). We used reverse genetics to test the role of CEP164 in the DDR. We found that conditional...
Includes: Supplementary data
Journal Articles
J Cell Sci (2010) 123 (9): 1407–1413.
Published: 1 May 2010
... equally to this work ‡ Author for correspondence ( keith.gull@path.ox.ac.uk ) 9 2 2010 © 2010. 2010 BBS Basal body Cenancestor Cilia/flagellum Ciliopathy MKS Centrioles are highly conserved eukaryotic organelles consisting of nine microtubule triplets (or, more rarely...
Includes: Supplementary data
Journal Articles
J Cell Sci (2009) 122 (5): 611–624.
Published: 1 March 2009
...Nathan J. Bialas; Peter N. Inglis; Chunmei Li; Jon F. Robinson; Jeremy D. K. Parker; Michael P. Healey; Erica E. Davis; Chrystal D. Inglis; Tiina Toivonen; David C. Cottell; Oliver E. Blacque; Lynne M. Quarmby; Nicholas Katsanis; Michel R. Leroux Meckel syndrome (MKS) is a ciliopathy characterized...
Includes: Supplementary data